Warning Signs And Progression Of Galactosemia

Galactosemia is a genetic disorder that occurs when the body has trouble processing galactose, a type of simple sugar. Many foods have small amounts of galactose. For the most part, it's a part of lactose, a more common sugar found in many baby formulas and all dairy products. The symptoms occur when the body cannot produce energy using galactose. There are multiple forms of galactosemia, and each is caused by one or more mutations in a certain gene.

Different enzymes may be affected, since several enzymes are responsible for breaking down galactose. Type I is the most commonly found and severe. Without prompt treatment, it leads to life-threatening complications in newborns in just a few days. Type II causes fewer medical issues than type I, though affected individuals do develop cataracts. Type III varies in symptom presentation from mild to severe.

Appetite Loss

Since galactosemia is a genetic condition, symptoms are present either from birth or shortly following birth. Appetite loss and problems feeding are some of the most common symptoms. It's sometimes difficult to identify loss of appetite in infants, since they don't have the communication skills to explain exactly what they're feeling. Irritation, coughing, and drooling often accompany a loss of appetite.

One of the symptoms doctors look for in young children is refraining from eating their favorite foods, but since infants have yet to develop favorite foods, difficulty or distress with breastfeeding or formula is a substitute. Though some infants may not show interest in feeding when they simply aren't hungry, consistent lack of interest in food or indigestion is cause for concern. This is especially true immediately following birth.

Vomiting

Excessive vomiting tends to set in after a few days or weeks, generally paired with a loss of appetite. Some parents may have difficulty differentiating between vomiting and spitting up. Spitting up is a normal behavior in infants and young children, and it tends to occur when a child burps after feeding. Medically, spitting up is called gastroesophageal reflux, and most infants exhibit it. Vomiting, however, is more forceful and tends to have large amounts. While a child may spit up a mouthful of milk or formula through their mouth or nose, vomiting involves the body forcefully contracting to expel as much of the stomach's contents as possible.

Jaundice

Jaundice occurs in infants who have type I galactosemia. This type occurs when there are mutations in an individual's galactose-1-phosphate uridyl transferase gene. The GALT gene converts galactose into glucose, which is the main energy source the majority of cells use. Jaundice is caused by an excess of bilirubin in their blood. This condition is commonly seen in infants and occurs when the liver hasn't developed enough to filter bilirubin. In most cases, it resolves on its own as the liver develops.

But in cases involving GALT gene mutations, the bilirubin buildups may become severe enough to cause potentially life-threatening complications. The most characteristic symptom of jaundice is yellowing of an infant's skin and eyes. If coupled with other typical galactosemia symptoms, doctors should test for the possibility of galactosemia.

Diarrhea

Galactosemia can cause complications to an infant's intestinal health. Diarrhea is one of the many potential symptoms of gastrointestinal distress and inability to process foods. One of the most difficult things about galactosemia is its symptoms tend to mimic other disorders, so if parents aren't aware they carry the gene, diagnosis sometimes takes a long time.

If diarrhea is coupled with lack of appetite, vomiting, weight loss, or cognitive issues, doctors should screen for galactosemia and severe illnesses. Symptoms like vomiting and diarrhea occur because the infant's body isn't able to process the galactose in their food. Other common causes of baby diarrhea include sensitivity to medicine, ingestion of toxic substances, drinking excess fruit juice, or being infected by bacteria, parasites, or viruses.

Weight Loss

During the first few months of life, healthy babies grow rapidly and gain weight as their bodies develop. However, children with untreated galactosemia may lose weight instead. This is generally caused by a combination of difficulty feeding and an inability to digest food properly. When children don't meet typical developmental standards of growth, medical professionals call it failure to thrive. The majority of babies are double their birth weight by four months old, and they triple their weight by one year.

Doctors should check infants to see whether they're meeting these developmental milestones. A failure to thrive is always cause for concern regardless of the underlying reason, because it can cause further developmental problems in all areas of a child's life. In addition, it's especially important to diagnose and treat galactosemia as soon as possible, because not doing so will lead to systemic organ and brain damage.